Evidence map›Paper›PMID 37841849›Full record

ArticleResearch square2023

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin, Stephan Collins, Alban Ziegler, Emily Pao, Nora Oyama and 52 more

Open access · greenAbstract readPreprint
In one paragraph

Article in Research square, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 4 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

62 authors at 20 institutions in 13 countries.

David PickettsOttawa Hospital Research Institute.
Ghayda MirzaaSeattle Children's Hospital.ORCID 0000-0003-2648-7657
Keqin YanOttawa Hospital Research Institute.
Raissa RelatorLondon Health Sciences Centre.
Sara TimpanoOttawa Hospital Research Institute.
Binnaz YalcinInserm.ORCID 0000-0002-1924-6807
Stephan CollinsINSERM UMR-S 1231, University of Bourgogne Franche-Comté.
Alban ZieglerUniversity Hospital of Angers.
Emily PaoSeattle Children's Research Institute.
Nora OyamaSeattle Children's Research Institute.
Elise Brischoux-BoucherUniversité de Franche-Comté.
Juliette PiardCHU Besançon.ORCID 0000-0001-5244-5325
Kristin MonaghanGeneDx.
Maria Guillen SacotoGeneDx, Gaithersburg, MD.
William DobynsUniversity of Minnesota.ORCID 0000-0002-7681-2844
Kristen ParkUniversity of Colorado Denver School of Medicine.ORCID 0000-0001-5527-3047
Daniel Fernández-MayoralasHospital Universitario Quirónsalud.
Alberto Fernández-JaénDepartment of Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid.ORCID 0000-0003-3306-9832
Parul JayakarDivision of Genetics and Metabolism, Nicklaus Children's Hospital.
Alfredo BruscoUniversity of Turin.ORCID 0000-0002-8318-7231
Vincenzo AntonaUniversity of Palermo.
Elisa GiorgioUniversity of Pavia.
Malin KvarnungKarolinska Institutet.
Bertrand IsidorCHU de Nantes.
Solène ConradNantes Université.
Benjamin CognéCHU Nantes.ORCID 0000-0002-5503-6292
Wallid DebNantes Université.
K E StuurmanDepartment of Clinical Genetics, Erasmus University Medical Center.
Katalin SterbovaCharles University and Motol Hospital.
Noor SmalVIB Center for Molecular Neurology.
Sarah WeckhuysenVIB Center for Molecular Neurology.
Renske OegemaUniversity Medical Center Utrecht.ORCID 0000-0002-7146-617X
Micheil InnesUniversity of Calgary.ORCID 0000-0001-9881-5467
Maeson LatskoThe Steve and Cindy Rasmussen Institute for Genomic Medicine.
Tawfeg Ben-OmranHamad Medical Corporation.
Rebecca YehBoston Children's Hospital.
Michael KruerPhoenix Children's Hospital.ORCID 0000-0002-1373-7891
Somayeh BakhtiariUniversity of Arizona College of Medicine.
Antigone PapavasiliouIASO Children's Hospital.
Sébastien MouttonCHU François Mitterrand.
Sophie NambotCentre de Génétique et Centre de référence «Anomalies du Développement et Syndromes Malformatifs», Hôpital d'Enfants, Centre Hospitalier.ORCID 0000-0002-9630-5049
Sirisak ChanprasertUniversity of Washington.
Sarah PaolucciUniversity of Washington.
Kait MillerUniversity of Washington School of Medicine.
Barbara BurtonNorthwestern University Feinberg School of Medicine.
Katherine KimNorthwestern University Feinberg School of Medicine.
Emily O'HeirBroad Institute of MIT and Harvard.
Zandre BruwerUniversity of Cape Town.
Kirsten DonaldDivision of Developmental Paediatrics, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Klipfontein Road/Private Bag, Rondebosch, 7700/7701, Cape Town, South A.ORCID 0000-0002-0276-9660
Tjitske KleefstraRadboud University Medical Centre.
Amy GoldsteinChildren's Hospital of Pittsburgh of UPMC.
Brad AngleAdvocate Children's Hospital.
Kelly BontempoAdvocate Children's Hospital.
Peter MinyUniversity Hospital Basel.
Pascal JosetUniversity Hospital Basel.
Florence DemurgerInstitute of Genetics & Development of Rennes.
Emma HobsonLeeds Teaching Hospitals Trust.
Lewis PangRoyal Devon and Exeter.
Lori CarpenterSt Francis Health Systems.
Dong LiThe Children's Hospital of Philadelphia.ORCID 0000-0002-2265-6727
Dominique BonneauDepartment of Biochemistry and Genetics, University Hospital of Angers, F-49000.
Ottawa Hospital · CAUniversity of Washington · USCentre Hospitalier Universitaire de Nantes · FRHospital Base · CLInserm · FRNantes Université · FRUniversité d'Angers · FRBoston Children's Hospital · USBroad Institute · USCentre Hospitalier Universitaire de Besançon · FRCharles University · CZChildren's Hospital of Philadelphia · USChildren's Hospital of Pittsburgh · USErasmus MC · NLHamad Medical Corporation · QAHôpital d'Enfants · FRHôpital Saint-François d'Assise · CAHospital Quirónsalud Barcelona · ESHospital Universitario Quirónsalud Madrid · ESIaso Children’s Hospital · GR

Funding

Rare genetic disorders in NeuroDev: Insight into the genetic and phenotypic heterogeneity of ID, ASD and ADHD in South African PopulationsU01MH119689 · NIMH · BROAD INSTITUTE, INC. · PI DONALD, KIRSTY, O'DONNELL-LURIA, ANNE · 2019 to 2023
$5.2M
Genomic Insights into the Neurobiology of Cerebral PalsyR01NS106298 · NINDS · UNIVERSITY OF ARIZONA · PI KRUER, MICHAEL C · 2019 to 2023
$3.7M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
Genomic analysis of the Multiplex, Autozygous Populations in Cerebral Palsy (MAP CP) cohort: a focused approach to a complex diseaseR01NS127108 · NINDS · UNIVERSITY OF ARIZONA · PI Michael C Kruer · 2023 to 2026
$2.6M
NHGRI NIH HHS R01 HG009141NIMH NIH HHS U01 MH119689NINDS NIH HHS R01 NS106298NINDS NIH HHS R01 NS127108
6 · The paper itself

Abstract

Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SNF2H (

Indexed as

brain overgrowthepigeneticsexome sequencingNURF complexSMARCA1

Identifiers

PMID37841849
PMCPMC10571636
OpenAlexW4387161221

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.